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Recurrent fetal triploidy: is there a genetic cause?
Andreia Fontoura Oliveira1, Maria Manuel Torrão2, Rosete Nogueira3,4
1Department of Gynecology and Obstetrics, Centro Hospitalar do Médio Ave EPE, Santo Tirso, Portugal andreiafontouraoliveira@gmail.com.
BMJ Case Reports
|March 3, 2021
Summary
Recurrent triploidy, a rare genetic disorder, occurred twice in the same woman with different partners. This suggests a potential maternal genetic predisposition, warranting further investigation for genetic counseling.
Area of Science:
- Genetics
- Reproductive Medicine
- Maternal-Fetal Medicine
Background:
- Triploidy is typically a sporadic genetic event with no known recurrence risk.
- Most triploidy cases result in early miscarriage, with limited fetal development beyond the second trimester.
Observation:
- A case of two consecutive triploid pregnancies in the same woman, each with a different father, is presented.
- Both pregnancies progressed to the second trimester, necessitating elective termination following diagnosis via amniocentesis.
Findings:
- Detailed analysis of prenatal markers, ultrasound findings, clinical course, and pathological data from both pregnancies.
- Comparison of fetal autopsy and placental pathology findings supports recurrent triploidy of maternal origin.
Implications:
- The findings challenge the understanding of triploidy as solely sporadic.
- Suggests a possible underlying maternal genetic predisposition for recurrent triploidy.
- Highlights the need for further research into genetic mechanisms and improved genetic/obstetric counseling for such cases.
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